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Muscle Wasting Disease
Transcript of Muscle Wasting Disease
Distal Muscular Dsytrophy (DD)
Oculopharyngeal Muscular Dystrophy
Signs And Symptoms
What is Oculopharyngeal Muscular Dystrophy?
What are the causes?
Inherited Myopathies are caused by mutations in genes; the building blocks of our bodies. (mda.org)
Inherited Myopathy with early onset Respiratory Failure
Identified mutation changes a single protein building block in the Titin protein
Limb-girdle Muscular Dystrophy
The mutation deletes several amino acid and replaces them with other amino acids at the end of the Titin gene.
Tibial Muscular Dystrophy
Duchenne Muscular Dystrophy (DMD)
What it is: Characterized by progressive muscle degeneration and weakness; absence of dystrophin
History: Guillaume Benjamin Amand Duchenne in 1860's
How it is passed: Inherited and passed by the mother
Symptom Onset: Usually between ages of 3-5; mainly affects boys
Muscle weakness first affecting hips, thighs, shoulders, pelvic area
Later on, muscles in arms, legs, trunk
What it is: characterized by weakness of specific muscles that begin in childhood or adulthood; mutation of MATR3 gene
History: First described in 1902
How it is passed: Inherited in an autosomal dominant or recessive pattern
Muscles weakness in the ankle usually is the first symptom
Starts on one side, but both sides eventually are affected
Affects the muscles in the lower arms and legs, hands and feet
A mutation in any of the 8 genes that affect proteins that are necessary to the function of the muscles
MATR3 gene; provides instruction for making protein called Matrin 3
Creatine Kinase (CK) Test
Diet and Exercise
Survival into early 30's, possibly into 40's or 50's
Research involves replacing or changing the gene, human trials
Muscle disease that affects both the skeletal and cardiac muscles
Primarily affects the muscles of the front of the lower leg
There are no cures for DD
Gene replacement therapy
Occupational/ Physical therapy
Disease is most common in Sweden, rare in other parts of the world
Affects fewer muscles than other muscular dystrophy diseases; less severe
Disease by itself and describes a group of six specific muscle diseases affecting distal muscles